Varaico: Literature-Extracted Genetic Variants

SLC30A8

339 papers

RefSeq Summary

The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly ...

Pfam Domains

Cation_effluxaa 74–275UCSCCation efflux transmembrane domain

ZT_dimeraa 279–354UCSCCation efflux protein, cytoplasmic domain

Gene Aliases

HGNC Name

solute carrier family 30 member 8

HGNC Alias Symbols

ZnT-8; ZNT8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_173851.3

p.M50I

c.150G>T

Surrounding Variants

4 papers

NM_173851.3

p.M50I

c.150G>A

4 papers

NM_173851.3

p.M50I

c.150G>C

1 paper

NM_173851.3

p.H54D

c.160C>G

3 papers

NM_173851.3

p.H54R

c.161A>G

1 paper

NM_173851.3

p.S55G

c.163A>G

1 paper

NM_173851.3

p.E46*

c.136G>T

1 paper

NM_173851.3

p.E44K

c.130G>A

1 paper

NM_173851.3

p.P59L

c.176C>T

1 paper

NM_173851.3

p.R41delFs

c.122delG

1 paper

NM_173851.3

p.E40K

c.118G>A

1 paper

NM_173851.3

p.R39*

c.115A>T

1 paper

NM_173851.3

p.K62M

c.185A>T